To raise awareness of the issue, Dr. Mendell has delivered a number of talks and written papers on the subject. In a July report in Muscle & Nerve (Report of MDA muscle disease symposium on DMD newborn screening), Dr. Mendell describes the screening test, which uses standard dried bloodspot samples collected shortly after birth to check creatine kinase (CK) levels and prompts a DNA screen for Duchenne muscular dystrophy genes on samples above the validated CK cutoffs.

Last year, Dr. Mendell presented information on the screen at the Washington, D.C., Muscular Dystrophy Association’s Muscle Symposium. Earlier this year, he met with the DHHS Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC), which is responsible for creating national recommendations for newborn screening panels adopted by most states. Although the national committee has not yet officially recommended the newborn screening test for Duchenne muscular dystrophy, Dr. Mendell and his team remain optimistic.

“The DACHDNC’s feedback recommended testing the system outside of Ohio. If this were done, the Committee would more likely approve newborn screening for DMD,” Dr. Mendell says. “So far, everyone agrees that the methodology developed at Nationwide Children’s Hospital, working with the Ohio Department of Health, is the appropriate system for DMD newborn screening based on its reliability, reproducibility and cost.”

Once the test receives endorsement from the DACHDNC, hundreds of children per year with DMD could be identified through newborn screening and receive the benefit of early treatment. “The only way we can defeat this dreadful disease is to treat the disease at its onset,” says Dr. Mendell, “This is best done by treating the condition when it rears its ugly head in the newborn.”